摘要:

In a study of 350 patients with multiple congenital contractures (arthrogryposis), 80 (23%) patients had mental retardation or were developmentally delayed. Out of that group of 80 patients, 13 (16%) were found to have abnormal karyotypes. Two of the thirteen had a family history of chromosomal abnormalities without congenital contractures, therefore, 11 patients had chromosomal anomalies which appeared to be associated with the congenital contractures. Five of the eleven (45%) had chromosome mosaicism, three of those had tissue mosaicism. Two had abnormal skin fibroblast cell lines and normal peripheral leukocyte chromosome studies and one had a normal bone marrow karyotype with abnormal peripheral leukocyte chromosome studies. Chromosome studies were done in these patients with congenital contractures because of developmental delay and multisystem involvement, or recognition of clinical features typical of a chromosomal syndrome. We recommend first lymphocyte; and if those are normal, then fibroblast studies be done on all patients with multiple joint contractures and developmental delay, particularly if unusual facial features or multisystem abnormalities are present.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02278.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

We report three sibling pairs with congenital cerebellar hypoplasia. All six children presented in the first years of life with delays in motor and language development. All patients showed cerebellar and/or vermal dysfunction and, on formal psychometric testing, cognitive abilities ranged from normal to moderately retarded. Abnormalities on CT scan ranged from prominent valleculla to an enlarged cisterna magna with hypoplasia of the cerebellar hemispheres and vermis. The pedigrees are consistent with autosomal recessive inheritance.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02279.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Serum creatine kinase levels in 39 control females and 59 obligate carriers of Becker muscular dystrophy (BMD) have been used to construct likelihood ratios for carrier detection. In 24 possible carriers of BMD, analysis of DNA with X chromosome specific DNA probes linked to the dystrophy gene, has been used in conjunction with creatine kinase measurement to calculate final risk estimates of carrier status. Incorporation of information from probe genotype into the Bayesian calculation, enables a substantially lower risk to be deliniated for some possible carriers of the BMD gene. Thus, although the existing DNA probes are not sufficiently closely linked to BMD to be used in prenatal diagnosis, they can make a major contribution to genetic counselling by refining the estimated probability of carrier status.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02280.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

In Duchenne dystrophy computed tomography of muscles shows total or partial replacement of normal muscle by low density tissue, presumably representing fat. It was hypothesised that female carriers would have increased fat deposition, and hence lower density readings in certain muscle groups when compared with controls. Three C. T. scans, two through the thigh and one through the calf, were obtained on 9 obligate carriers, 12 “possible” carriers, and 10 controls. A total of 15 density readings in different muscle groups were obtained for each subject. The results, analysing the mean densities in Hounsfield units, show that the obligate carriers have statistically significant lower density readings than controls. The 9 obligate carriers and 10 controls were correctly allocated using discriminant function analysis of muscle density readings. An attempt to assign the “possible” carriers was made. The use of C.T. scanning in addition to creatine kinase (C. K.) estimations will significantly improve accuracy of genetic counselling and has the advantage of being non

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02281.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

In a survey of Black patients with osteogenesis imperfecta (OI) attending the Baragwanath Hospital, Johannesburg, the severe autosomal recessive OI type III was recognized in 21, of whom 18 lived in the Johannesburg area. By contrast only 5 had the ostensibly common mild autosomal dominant OI type I. The estimated minimum population frequency is 0.6 per hundred thousand for OI type III in this group and 0.1 per hundred thousand for OI type I. These figures are the reverse of those calculated for White Australians, where the ratio between OI type I and III is of the order of 7 to 1. This anomalous situation has important genetic and practical implications.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02282.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Clinical descriptions of individuals with partial deletion of the distal short arm of chromosome three have been reported rarely. A characteristic phenotype has been proposed. We present another patient with this cytogenetic abnormality whose physical and developmental features show similarities with, as well as differences from, previously reported cases. This suggests that the clinical phenotype requires further definition. In addition, gene dosage studies were undertaken on several serum proteins in order to try to map the location of the responsible genes on chromosome three.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02283.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A baby with holoprosencephaly and the tetralogy of Fallot is described. The mother had operative correction of the same cardiac lesion and shows features typical of the velo‐cardio‐facial syndrome, an autosomal dominant disorder. The association between holoprosencephaly and this condition has not been previously reported. When holoprosencephaly is found associated with congenital heart disease, velo‐cardio‐facial syndrome should be sought in other family

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02284.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Restriction fragment length polymorphisms detectable with the RC8 probe, a probe for an area located on the short arm of the X‐chromosome, and loosely linked to the locus for Duchenne muscular dystrophy, have been studied in a Norwegian population. With the Taql enzyme three variants were observed. The gene frequencies of the previously detected variants were 0.867 and 0.082, respectively, and the frequency of a new variant was 0.051. Family studies confirmed Mendelian inheritance of the variant

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02285.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Three of four offspring of consanguineous parents presented a unique association of microcephaly, mental retardation, spasticity, connective tissue abnormalities, cleft palate, persistent hypertrophic primary vitreous, and short stature. In one patient brain atrophy was documented. All the affected individuals had severe asthma and it is thought that the asthma is associated with the syndrome complex. Genetic transmission is most likely autosomal recessive. We believe this constellation of findings to be a new genetic syndrome and have termed it the oculo‐palato‐cerebral dwarfism syndr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02286.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Two sisters with similar clinical features are described. Their clinical manifestations include mental retardation, delayed speech development, low percentiles for height, weight and head circumference, dysmorphic ears, cubitus valgus, pseudoclubbing of fingers, flexion deformity of toes, small kidneys, elevated serum creatinine and blood urea nitrogen (BUN).High resolution chromosome analysis revealed a complete deletion of 16qh with a concurrent small deletion of the adjacent euchromatic segment 16q12.1 in one of the no. 16 chromosomes of both sisters, whereas the parents had normal no. 16 chromosomes. Length polymorphism of the 16qh regions appeared to indicate a maternal origin of the deleted no. 16 chromosome in both sisters. The clinical features of both sisters were attributed to the 16q12.1 deletion. Since both parents were cytogenetically normal, the two sisters were considered as a recurrence of a similar de novo interstitial deletion. Possible mechanisms which could lead to recurrence of a seemingly de novo event are discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02287.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY